Prof. Dr. Burak Tatlı
Dravet Syndrome is a rare childhood epilepsy characterized by drug-resistant epileptic seizures that appear in the first year of life. This genetic disease significantly affects children’s development and quality of life.
In Dravet syndrome, there is an almost normal development curve in the first year of life. Cognitive slowing usually occurs between the second and third years of life and stabilizes around the sixth year. Cognitive retardation ranging from mild to severe is observed in 58% to 100% of patients.
Most patients with Dravet syndrome have language development, but pronunciation disorders are seen due to oral motor insufficiency, dysarthria, difficulty in speech planning, and expressive difficulty.
In a study conducted by Ouss et al. (2019), the rate of autism spectrum disorder was found to be high in patients with Dravet syndrome (39%).
Autism spectrum disorder rates in patients with Dravet syndrome:
The reason why these rates are found lower in children may be related to the relative preservation of communication skills in children. In adult patients clinically diagnosed with autism, social skills such as closeness to strangers have been observed to be preserved, which is inconsistent with known autistic characteristics.
It has been found that social smiling is partially preserved in children with Dravet syndrome, and children with both autism and Dravet syndrome show more social characteristics than typical autistic children. Additionally, communication skills are partially preserved.
The relationship between Dravet syndrome and autism and cognitive retardation has been investigated, and it has been found that cognitive impairment is greater in Dravet syndrome patients with autism; the severity of autism is also related to the degree of cognitive retardation. No significant connection has been found between the age of onset of the disease, status epilepticus onset, and autism and cognitive retardation with SCN1A mutation.
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